2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Spectrum of Genetic Alterations for Hereditary Paraganglioma-Pheochromocytoma Syndrome Testing: Eight-Year Experience from a Single Diagnostic Laboratory

Spectrum of Genetic Alterations for Hereditary Paraganglioma-Pheochromocytoma Syndrome Testing: Eight-Year Experience from a Single Diagnostic Laboratory

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The Mayo Clinic conducted a study to evaluate the spectrum of genetic alterations in hereditary paraganglioma-pheochromocytoma (PPGL) syndrome testing. The study analyzed 409 genetic test orders for PPGL from 2015 to 2022. The results showed that the highest proportion of pathogenic or likely pathogenic variants were found in the SDHB and SDHD genes. The study also highlighted the importance of germline evaluation for patients with features of hereditary PPGL syndromes, as it had a notable diagnostic yield of 20%. Additionally, two cases in the cohort had SDHB immunohistochemistry (IHC) staining results demonstrating loss of SDHB protein, and both had germline pathogenic SDHB variants, suggesting that IHC may be a useful tool to characterize variants of uncertain significance. The study recommended further review of phenotype data for positive cases, analysis of additional tumor specimens with SDHB IHC, and review of tumor sequencing data. The study referenced guidelines from the National Comprehensive Cancer Network and the Endocrine Society that recommend germline testing for individuals with a personal or family history of PPGL. Overall, the study was conducted to further characterize the disease and associated variants, as paraganglioma and pheochromocytomas are rare tumors in the general population.

Asset Subtitle

Presenting Author - Megan Holdren, MS, CGC; Co-Author - Rhianna Urban, MS, CGC; Co-Author - Megan Hoenig, MS, MPH, CGC; Co-Author - Dragana Milosevic, MS; Co-Author - Lori A. Erickson, MD; Co-Author - Alicia Algeciras-Schimnich, PhD; Co-Author - Stefan Grebe, MD, PhD; Co-Author - Irina Bancos, MD; Co-Author - William F. Young, Jr., MD, MSc; Co-Author - Wei Shen, PhD; Co-Author - Sounak Gupta, MBBS, PhD;

Meta Tag

Cancer Syndromes

Genetic Testing

Co-Author Rhianna Urban, MS, CGC

Co-Author Megan Hoenig, MS, MPH, CGC

Co-Author Dragana Milosevic, MS

Co-Author Lori A. Erickson, MD

Co-Author Alicia Algeciras-Schimnich, PhD

Co-Author Stefan Grebe, MD, PhD

Co-Author Irina Bancos, MD

Co-Author William F. Young, Jr., MD, MSc

Co-Author Wei Shen, PhD

Co-Author Sounak Gupta, MBBS, PhD

Presenting Author Megan Holdren, MS, CGC

Keywords

Mayo Clinic

genetic alterations

PPGL syndrome

SDHB gene

SDHD gene

germline evaluation

diagnostic yield

SDHB immunohistochemistry

variants of uncertain significance

rare tumors